HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57766104G= , CM000674.2:g.57766104G= | GRCh38 |
NC_000012.11:g.58159887G= , CM000674.1:g.58159887G= | GRCh37 |
NC_000012.10:g.56446154G= | NCBI36 |
NG_007076.1:g.6090C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546609.2:n.201C= | ||
ENST00000713544.1:c.289C= | ENSP00000518840.1:p.Leu97= | |
ENST00000713545.1:c.289C= | ENSP00000518841.1:p.Leu97= | |
ENST00000228606.9:c.289C= MANE Select | ENSP00000228606.4:p.Leu97= | |
ENST00000228606.8:c.289C= | ENSP00000228606.4:p.Leu97= | |
ENST00000546496.1:n.117C= | ||
ENST00000546609.1:c.201C= | ||
ENST00000547344.5:n.343C= | ||
ENST00000552186.1:n.408C= | ||
NM_000785.3:c.289C= | NP_000776.1:p.Leu97= | |
NM_000785.4:c.289C= MANE Select | NP_000776.1:p.Leu97= |